Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM.
D'Abrusco F, et al. Among authors: cattaneo l.
Eur J Hum Genet. 2024 Oct 11. doi: 10.1038/s41431-024-01703-x. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 39394465